About
Guanidinoacetate methyltransferase (GAMT) deficiency is an inherited condition which affects the body’s ability to produce creatine. With GAMT deficiency, the body does not have enough of the enzyme GAMT to break down guanidinoacetate (GUAC) into creatine, which leads to a deficiency of the substance. Without enough creatine, the brain and muscles of the body will have difficulty properly using and storing energy.
GAMT deficiency can cause severe neurological problems such as intellectual disability, limited speech development, recurrent seizures, behavioral problems, and involuntary movements. Fortunately, early diagnosis and treatment can lead to improved health and development in affected children.
Condition Type:
Core Conditions
Frequency:
GAMT deficiency affects 1 in 250,000 to 1 in 550,000 individuals.
More Information for Parents:
Also known as:
- GAMT
- GAMT deficiency
- Creatine deficiency syndrome due to GAMY deficiency
- GAMT-D
- Cerebral Creatine Deficiency Syndrome 2
Core Conditions
- Propionic Acidemia (PROP)
- Methylmalonic Acidemia (Methylmalonyl-CoA Mutase Deficiency) (MUT)
- Methylmalonic Acidemia (Cobalamin Conditions)
- Isovaleric Acidemia (IVA)
- 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)
- 3-Hydroxy-3-Methylglutaric Aciduria (HMG)
- Holocarboxylase Synthetase Deficiency (MCD)
- Beta-Ketothiolase Deficiency (BKT)
- Glutaric Acidemia, Type I (GA-1)
- Guanidinoacetate Methyltransferase (GAMT) Deficiency
- Mucopolysaccharidosis, Type II (MPS II)
- Biotinidase Deficiency (BIOT)
- Critical Congenital Heart Disease (CCHD)
- Cystic Fibrosis (CF)
- Classic Galactosemia (GALT)
- Hearing Loss or Varying Hearing Levels
- Severe Combined Immunodeficiency (SCID)
- X-Linked Adrenoleukodystrophy (X-ALD)
- Pompe
- Spinal Muscular Atrophy (SMA)
- Mucopolysaccharidosis, Type I (MPS I)
Secondary
- Citrullinemia, Type II (CIT II)
- Hypermethioninemia (MET)
- Benign Hyperphenylalaninemia (H-PHE)
- Biopterin Defect in Cofactor Biosynthesis (BIOPT-BS)
- Biopterin Defect in Cofactor Regeneration (BIOPT-REG)
- Ornithine Transcarbamylase Deficiency (OTC)
- Carbamoyl Phosphate Synthetase Deficiency (CPS)
- Tyrosinemia, Type II (TYR II)
- Tyrosinemia, Type III (TYR III)